Mitochondrial disease
Gene: FH
FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276, 20301430). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132, 20301679). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.Created: 10 May 2022, 4:31 a.m. | Last Modified: 10 May 2022, 5:09 a.m.
Panel Version: 0.14031
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Kidney Cancer
- Prepair 1000+
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Paraganglioma_phaeochromocytoma
- Facial papules
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FH was added gene: FH was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: FH was set to Unknown